Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000367142 [[205681946, 205687607], [205688654, 205688804], [205689628, 205689781], [205693053, 205693109], [205696827, 205696933], [205698699, 205698749], [205719084, 205719404]] [[205687407, 205687607], [205688654, 205688804], [205689628, 205689781], [205693053, 205693109], [205696827, 205696933], [205698699, 205698749], [205719084, 205719101]]
ENST00000464938 [[205687579, 205687607], [205688654, 205688854]] None
NM_022731 [[205681946, 205687607], [205688654, 205688804], [205689628, 205689781], [205693053, 205693109], [205696827, 205696933], [205698699, 205698749], [205719084, 205719372]] [[205687407, 205687607], [205688654, 205688804], [205689628, 205689781], [205693053, 205693109], [205696827, 205696933], [205698699, 205698749], [205719084, 205719101]]
Promoter
Chrom Start End Description
chr1 205684808 205684853 CAGE_peak_3_at_NUCKS1_5end
chr1 205719122 205719157 CAGE_peak_2_at_NUCKS1_5end
chr1 205719295 205719353 CAGE_peak_1_at_NUCKS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I205700 205700856 205701744 0.82 [{'connected_gene': 'RAB29', 'score': 30.73}, {'connected_gene': 'SLC45A3', 'score': 14.1}, {'connected_gene': 'RNU6-418P', 'score': 11.94}, {'connected_gene': 'NUCKS1', 'score': 11.08}, {'connected_gene': 'MFSD4A', 'score': 10.99}, {'connected_gene': 'ELK4', 'score': 10.64}, {'connected_gene': 'LOC100420878', 'score': 10.62}, {'connected_gene': 'ENSG00000201944', 'score': 0.29}]
chr1 GH01I205708 205708870 205709520 0.59 [{'connected_gene': 'RAB29', 'score': 32.09}, {'connected_gene': 'SLC45A3', 'score': 12.99}, {'connected_gene': 'RNU6-418P', 'score': 10.84}, {'connected_gene': 'MFSD4A', 'score': 10.65}, {'connected_gene': 'ELK4', 'score': 10.62}, {'connected_gene': 'LOC100420878', 'score': 10.62}, {'connected_gene': 'NUCKS1', 'score': 10.49}, {'connected_gene': 'ENSG00000201944', 'score': 0.34}]
chr1 GH01I205783 205783693 205784485 0.89 [{'connected_gene': 'RAB29', 'score': 27.76}, {'connected_gene': 'NUCKS1', 'score': 11.18}, {'connected_gene': 'LOC105371702', 'score': 0.44}, {'connected_gene': 'GC01M205795', 'score': 0.39}]
chr1 GH01I205770 205770733 205770882 0.54 [{'connected_gene': 'RAB29', 'score': 0.77}, {'connected_gene': 'NUCKS1', 'score': 0.34}]
chr1 GH01I205800 205800268 205802471 0.83 [{'connected_gene': 'RAB29', 'score': 15.35}, {'connected_gene': 'PM20D1', 'score': 10.4}, {'connected_gene': 'NUCKS1', 'score': 9.96}, {'connected_gene': 'ELK4', 'score': 4.79}, {'connected_gene': 'GC01M205795', 'score': 0.77}, {'connected_gene': 'GC01P205813', 'score': 0.39}, {'connected_gene': 'SLC41A1', 'score': 0.39}]
chr1 GH01I205786 205786351 205787978 1.03 [{'connected_gene': 'RAB29', 'score': 26.13}, {'connected_gene': 'PM20D1', 'score': 23.58}, {'connected_gene': 'SLC41A1', 'score': 11.99}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'SLC26A9', 'score': 10.01}, {'connected_gene': 'GC01M205795', 'score': 0.44}, {'connected_gene': 'LOC105371702', 'score': 0.39}]
chr1 GH01I205662 205662015 205662714 0.38 [{'connected_gene': 'RAB29', 'score': 24.55}, {'connected_gene': 'RNU6-418P', 'score': 11.11}, {'connected_gene': 'NUCKS1', 'score': 10.96}, {'connected_gene': 'ELK4', 'score': 10.86}, {'connected_gene': 'LOC100420878', 'score': 10.82}, {'connected_gene': 'MFSD4A', 'score': 10.65}, {'connected_gene': 'CDK18', 'score': 10.21}, {'connected_gene': 'SLC45A3', 'score': 6.75}, {'connected_gene': 'LOC105371701', 'score': 0.37}]
chr1 GH01I205663 205663992 205667404 1.27 [{'connected_gene': 'RAB29', 'score': 24.95}, {'connected_gene': 'RNU6-418P', 'score': 11.1}, {'connected_gene': 'NUCKS1', 'score': 10.97}, {'connected_gene': 'ELK4', 'score': 10.84}, {'connected_gene': 'LOC100420878', 'score': 10.81}, {'connected_gene': 'MFSD4A', 'score': 10.65}, {'connected_gene': 'CDK18', 'score': 10.21}, {'connected_gene': 'SLC45A3', 'score': 6.77}, {'connected_gene': 'LOC105371701', 'score': 0.39}]
chr1 GH01I205772 205772197 205776870 2.07 [{'connected_gene': 'RAB29', 'score': 578.47}, {'connected_gene': 'LOC105371702', 'score': 550.77}, {'connected_gene': 'PM20D1', 'score': 35.84}, {'connected_gene': 'ELK4', 'score': 10.17}, {'connected_gene': 'NUCKS1', 'score': 0.34}]
chr1 GH01I205667 205667939 205672759 1.58 [{'connected_gene': 'SLC45A3', 'score': 38.0}, {'connected_gene': 'RAB29', 'score': 27.45}, {'connected_gene': 'RNU6-418P', 'score': 11.09}, {'connected_gene': 'NUCKS1', 'score': 10.98}, {'connected_gene': 'ELK4', 'score': 10.82}, {'connected_gene': 'LOC100420878', 'score': 10.81}, {'connected_gene': 'MFSD4A', 'score': 10.64}, {'connected_gene': 'CDK18', 'score': 10.21}, {'connected_gene': 'PM20D1', 'score': 7.44}, {'connected_gene': 'LOC105371701', 'score': 0.39}]
chr1 GH01I205704 205704801 205705000 0.2 [{'connected_gene': 'SLC45A3', 'score': 13.02}, {'connected_gene': 'RNU6-418P', 'score': 10.84}, {'connected_gene': 'MFSD4A', 'score': 10.65}, {'connected_gene': 'ELK4', 'score': 10.63}, {'connected_gene': 'LOC100420878', 'score': 10.62}, {'connected_gene': 'RAB29', 'score': 10.6}, {'connected_gene': 'NUCKS1', 'score': 10.47}, {'connected_gene': 'ENSG00000201944', 'score': 0.31}]
chr1 GH01I205711 205709733 205709838 0.75 [{'connected_gene': 'SLC45A3', 'score': 12.99}, {'connected_gene': 'RNU6-418P', 'score': 10.84}, {'connected_gene': 'MFSD4A', 'score': 10.65}, {'connected_gene': 'ELK4', 'score': 10.62}, {'connected_gene': 'LOC100420878', 'score': 10.62}, {'connected_gene': 'RAB29', 'score': 10.61}, {'connected_gene': 'NUCKS1', 'score': 10.49}, {'connected_gene': 'ENSG00000201944', 'score': 0.34}]
chr1 GH01I205709 205708304 205708328 0.2 [{'connected_gene': 'SLC45A3', 'score': 12.99}, {'connected_gene': 'RNU6-418P', 'score': 10.84}, {'connected_gene': 'MFSD4A', 'score': 10.65}, {'connected_gene': 'ELK4', 'score': 10.63}, {'connected_gene': 'LOC100420878', 'score': 10.62}, {'connected_gene': 'RAB29', 'score': 10.61}, {'connected_gene': 'NUCKS1', 'score': 10.49}, {'connected_gene': 'ENSG00000201944', 'score': 0.34}]
chr1 GH01I205688 205688273 205688402 0.46 [{'connected_gene': 'NUCKS1', 'score': 11.19}, {'connected_gene': 'RAB29', 'score': 10.38}, {'connected_gene': 'MFSD4A', 'score': 10.34}, {'connected_gene': 'RNU6-418P', 'score': 10.09}, {'connected_gene': 'LOC105371701', 'score': 0.44}, {'connected_gene': 'SLC45A3', 'score': 0.44}, {'connected_gene': 'ENSG00000201944', 'score': 0.26}]
chr1 GH01I205747 205747664 205751766 2.35 [{'connected_gene': 'NUCKS1', 'score': 550.77}, {'connected_gene': 'ELK4', 'score': 61.85}, {'connected_gene': 'EIF2D', 'score': 44.73}, {'connected_gene': 'PM20D1', 'score': 34.53}, {'connected_gene': 'RAB29', 'score': 24.97}, {'connected_gene': 'DSTYK', 'score': 13.18}, {'connected_gene': 'LOC100420878', 'score': 10.84}, {'connected_gene': 'RPL7AP20', 'score': 10.17}, {'connected_gene': 'ENSG00000201944', 'score': 0.37}]
chr1 GH01I205693 205693601 205693800 0.52 [{'connected_gene': 'NUCKS1', 'score': 10.8}, {'connected_gene': 'ELK4', 'score': 10.57}, {'connected_gene': 'LOC100420878', 'score': 10.56}, {'connected_gene': 'MFSD4A', 'score': 10.44}, {'connected_gene': 'RNU6-418P', 'score': 10.36}, {'connected_gene': 'RAB29', 'score': 9.88}, {'connected_gene': 'SLC45A3', 'score': 0.39}, {'connected_gene': 'ENSG00000201944', 'score': 0.28}]
chr1 GH01I205120 205120325 205123269 2.16 [{'connected_gene': 'RBBP5', 'score': 556.68}, {'connected_gene': 'MDM4', 'score': 72.53}, {'connected_gene': 'PPP1R15B', 'score': 49.39}, {'connected_gene': 'ELK4', 'score': 47.92}, {'connected_gene': 'TMCC2', 'score': 31.63}, {'connected_gene': 'DSTYK', 'score': 26.74}, {'connected_gene': 'RPL13AP11', 'score': 19.47}, {'connected_gene': 'NFASC', 'score': 14.52}, {'connected_gene': 'SNRPGP10', 'score': 11.28}, {'connected_gene': 'LOC101929459', 'score': 10.59}, {'connected_gene': 'CNTN2', 'score': 10.5}, {'connected_gene': 'NUCKS1', 'score': 9.92}, {'connected_gene': 'TMEM81', 'score': 6.13}, {'connected_gene': 'GYG2P2', 'score': 0.29}]
chr1 GH01I206046 206046481 206054292 2.13 [{'connected_gene': 'RHEX', 'score': 553.91}, {'connected_gene': 'ELK4', 'score': 35.35}, {'connected_gene': 'EIF2D', 'score': 13.54}, {'connected_gene': 'ENSG00000252692', 'score': 11.91}, {'connected_gene': 'RPL7AP20', 'score': 11.76}, {'connected_gene': 'CTSE', 'score': 11.6}, {'connected_gene': 'ENSG00000226780', 'score': 10.69}, {'connected_gene': 'AVPR1B', 'score': 10.69}, {'connected_gene': 'SLC26A9', 'score': 10.08}, {'connected_gene': 'TMCC2', 'score': 9.89}, {'connected_gene': 'RBBP5', 'score': 9.77}, {'connected_gene': 'NUCKS1', 'score': 5.06}, {'connected_gene': 'PIR51502', 'score': 0.77}, {'connected_gene': 'GC01M206045', 'score': 0.77}]
chr1 GH01I205210 205210052 205212894 2.15 [{'connected_gene': 'DSTYK', 'score': 590.39}, {'connected_gene': 'MDM4', 'score': 95.09}, {'connected_gene': 'ELK4', 'score': 71.46}, {'connected_gene': 'PPP1R15B', 'score': 29.75}, {'connected_gene': 'NFASC', 'score': 14.51}, {'connected_gene': 'TMCC2', 'score': 12.16}, {'connected_gene': 'CNTN2', 'score': 10.93}, {'connected_gene': 'RPL13AP11', 'score': 10.9}, {'connected_gene': 'LOC100420878', 'score': 10.76}, {'connected_gene': 'LOC101929459', 'score': 10.26}, {'connected_gene': 'NUCKS1', 'score': 9.92}, {'connected_gene': 'RBBP5', 'score': 9.91}, {'connected_gene': 'RPL17P8', 'score': 0.44}]
chr1 GH01I205858 205858493 205858502 0.31 [{'connected_gene': 'SLC41A1', 'score': 11.43}, {'connected_gene': 'NUCKS1', 'score': 10.33}, {'connected_gene': 'RAB29', 'score': 10.21}, {'connected_gene': 'LOC284581', 'score': 0.77}, {'connected_gene': 'PM20D1', 'score': 0.44}]
chr1 GH01I205629 205629344 205633986 2.11 [{'connected_gene': 'ELK4', 'score': 556.6}, {'connected_gene': 'GC01P205631', 'score': 550.77}, {'connected_gene': 'MFSD4A', 'score': 15.94}, {'connected_gene': 'RAB29', 'score': 14.97}, {'connected_gene': 'RNU6-418P', 'score': 12.66}, {'connected_gene': 'CDK18', 'score': 10.59}, {'connected_gene': 'NUCKS1', 'score': 10.24}, {'connected_gene': 'PM20D1', 'score': 5.1}, {'connected_gene': 'LOC100420878', 'score': 0.44}]
chr1 GH01I206611 206611017 206613206 2.16 [{'connected_gene': 'EIF2D', 'score': 621.41}, {'connected_gene': 'ELK4', 'score': 71.77}, {'connected_gene': 'MAPKAPK2', 'score': 14.95}, {'connected_gene': 'LOC100420878', 'score': 10.74}, {'connected_gene': 'RPL7AP20', 'score': 10.11}, {'connected_gene': 'NUCKS1', 'score': 9.92}, {'connected_gene': 'RASSF5', 'score': 4.6}, {'connected_gene': 'PIR41610', 'score': 0.39}]
chr1 GH01I205710 205710753 205711800 1.08 [{'connected_gene': 'PM20D1', 'score': 32.23}, {'connected_gene': 'RAB29', 'score': 17.32}, {'connected_gene': 'SLC45A3', 'score': 12.98}, {'connected_gene': 'NUCKS1', 'score': 11.7}, {'connected_gene': 'RNU6-418P', 'score': 10.9}, {'connected_gene': 'MFSD4A', 'score': 10.82}, {'connected_gene': 'RNU2-19P', 'score': 10.82}, {'connected_gene': 'ELK4', 'score': 10.62}, {'connected_gene': 'LOC100420878', 'score': 10.61}, {'connected_gene': 'ENSG00000201944', 'score': 0.34}]
chr1 GH01I205825 205825738 205828151 0.62 [{'connected_gene': 'PM20D1', 'score': 27.29}, {'connected_gene': 'RAB29', 'score': 21.55}, {'connected_gene': 'NUCKS1', 'score': 10.47}, {'connected_gene': 'SLC26A9', 'score': 10.29}, {'connected_gene': 'SLC41A1', 'score': 0.39}]
chr1 GH01I205803 205803707 205806717 0.54 [{'connected_gene': 'PM20D1', 'score': 59.05}, {'connected_gene': 'RAB29', 'score': 18.81}, {'connected_gene': 'DSTYK', 'score': 13.18}, {'connected_gene': 'NUCKS1', 'score': 10.22}, {'connected_gene': 'GC01M205795', 'score': 0.44}, {'connected_gene': 'GC01P205813', 'score': 0.44}, {'connected_gene': 'SLC41A1', 'score': 0.44}]
chr1 GH01I205791 205791713 205793888 0.96 [{'connected_gene': 'PM20D1', 'score': 41.4}, {'connected_gene': 'RAB29', 'score': 23.23}, {'connected_gene': 'ELK4', 'score': 14.91}, {'connected_gene': 'DSTYK', 'score': 13.18}, {'connected_gene': 'EIF2D', 'score': 12.96}, {'connected_gene': 'SLC26A9', 'score': 11.28}, {'connected_gene': 'NUCKS1', 'score': 10.7}, {'connected_gene': 'GC01M205795', 'score': 0.77}, {'connected_gene': 'LOC105371702', 'score': 0.37}, {'connected_gene': 'SLC41A1', 'score': 0.34}]
chr1 GH01I205706 205706538 205707298 0.83 [{'connected_gene': 'PM20D1', 'score': 34.26}, {'connected_gene': 'SLC45A3', 'score': 12.99}, {'connected_gene': 'RNU6-418P', 'score': 10.84}, {'connected_gene': 'MFSD4A', 'score': 10.65}, {'connected_gene': 'ELK4', 'score': 10.63}, {'connected_gene': 'LOC100420878', 'score': 10.62}, {'connected_gene': 'RAB29', 'score': 10.61}, {'connected_gene': 'NUCKS1', 'score': 10.49}, {'connected_gene': 'ENSG00000201944', 'score': 0.34}]
chr1 GH01I205746 205746001 205746200 0.54 [{'connected_gene': 'PM20D1', 'score': 7.39}, {'connected_gene': 'NUCKS1', 'score': 0.77}, {'connected_gene': 'ENSG00000201944', 'score': 0.39}]
chr1 GH01I205784 205784932 205785897 0.31 [{'connected_gene': 'PM20D1', 'score': 23.7}, {'connected_gene': 'SLC41A1', 'score': 11.99}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'SLC26A9', 'score': 10.78}, {'connected_gene': 'LOC105371702', 'score': 0.44}, {'connected_gene': 'GC01M205795', 'score': 0.39}]
chr1 GH01I205789 205789070 205790227 0.2 [{'connected_gene': 'PM20D1', 'score': 54.49}, {'connected_gene': 'SLC41A1', 'score': 12.02}, {'connected_gene': 'SLC26A9', 'score': 11.28}, {'connected_gene': 'NUCKS1', 'score': 10.93}, {'connected_gene': 'RAB29', 'score': 8.67}, {'connected_gene': 'GC01M205795', 'score': 0.44}, {'connected_gene': 'LOC105371702', 'score': 0.39}]
chr1 GH01I205565 205565375 205566475 0.82 [{'connected_gene': 'RNU2-19P', 'score': 550.77}, {'connected_gene': 'ELK4', 'score': 10.96}, {'connected_gene': 'MFSD4A', 'score': 9.23}, {'connected_gene': 'NUCKS1', 'score': 4.76}, {'connected_gene': 'LOC284578', 'score': 0.44}]
chr1 GH01I205647 205647446 205648087 0.52 [{'connected_gene': 'RNU6-418P', 'score': 11.61}, {'connected_gene': 'SLC45A3', 'score': 11.6}, {'connected_gene': 'MFSD4A', 'score': 11.13}, {'connected_gene': 'RNU2-19P', 'score': 11.12}, {'connected_gene': 'CDK18', 'score': 10.69}, {'connected_gene': 'NUCKS1', 'score': 9.65}, {'connected_gene': 'ELK4', 'score': 0.39}, {'connected_gene': 'LOC105371701', 'score': 0.29}]
chr1 GH01I205648 205648328 205649143 0.85 [{'connected_gene': 'RNU6-418P', 'score': 11.61}, {'connected_gene': 'SLC45A3', 'score': 11.6}, {'connected_gene': 'MFSD4A', 'score': 11.13}, {'connected_gene': 'RNU2-19P', 'score': 11.12}, {'connected_gene': 'CDK18', 'score': 10.69}, {'connected_gene': 'NUCKS1', 'score': 9.65}, {'connected_gene': 'ELK4', 'score': 5.52}, {'connected_gene': 'LOC105371701', 'score': 0.29}]
chr1 GH01I205741 205740677 205741022 0.4 [{'connected_gene': 'ENSG00000201944', 'score': 0.44}, {'connected_gene': 'NUCKS1', 'score': 0.44}]
chr1 GH01I205740 205739913 205740062 0.68 [{'connected_gene': 'ENSG00000201944', 'score': 0.44}, {'connected_gene': 'NUCKS1', 'score': 0.39}]
chr1 GH01I205739 205739673 205739862 0.71 [{'connected_gene': 'ENSG00000201944', 'score': 0.44}, {'connected_gene': 'NUCKS1', 'score': 0.39}]
chr1 GH01I206106 206106401 206106830 1.15 [{'connected_gene': 'ENSG00000252692', 'score': 12.39}, {'connected_gene': 'CTSE', 'score': 11.86}, {'connected_gene': 'NUCKS1', 'score': 9.97}, {'connected_gene': 'IKBKE', 'score': 9.47}, {'connected_gene': 'RAB29', 'score': 9.4}, {'connected_gene': 'AVPR1B', 'score': 0.39}]
chr1 GH01I205796 205796621 205799418 0.68 [{'connected_gene': 'GC01M205795', 'score': 550.77}, {'connected_gene': 'PM20D1', 'score': 59.13}, {'connected_gene': 'RAB29', 'score': 11.86}, {'connected_gene': 'SLC26A9', 'score': 10.96}, {'connected_gene': 'NUCKS1', 'score': 10.52}, {'connected_gene': 'MFSD4A', 'score': 9.33}, {'connected_gene': 'DSTYK', 'score': 5.64}, {'connected_gene': 'GC01P205813', 'score': 0.37}, {'connected_gene': 'SLC41A1', 'score': 0.37}]

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